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A background on Elfie’s condition can be found here and a post I wrote when she was diagnosed is here.

We had some really good news from our genetic counsellor last week. The scientists in Frankfurt who have been analysing Elfie’s blood have managed to isolate and identify the changes in Elfie’s genes which leads to her condition, and rather than her having one gene abnormaity, she has two. Which means that they are now going to be testing mine and Will’s blood to unravel the mystery that is our Weird Genetics.

It’s taken them a year for a few reasons. One, because it took them so long to diagnose Elfie as her condition is so rare; the closest I’ve found to concrete numbers of affected people is a US genetics website that reported ‘at least 60 known cases’ in Feb 2010. Two, because nowhere in this country performs the analysis needed to identify our wonky genes and there were only two places in Europe that could. Three, genes are really small, and as they had no idea where to start with Elfie’s they had to sift through all of them… I can’t even begin to imagine the science behind all of this and my foundation in Medicine (thanks to Grey’s Anatomy) doesn’t even begin to cover it.

I’m glad they have managed to crack our genetic code as we were starting to get a bit worried for unborn Harold baby. In all honesty it’s been a bit of a struggle already: Elfie’s endocronologist has been helpful but unsure as to whether this baby will need treatment in utero, my midwife did an amazing ‘WHA?’ face when I tried to explain Elfie’s diagnosis to her at my booking in appointment and the hospital’s screening department gave me the equivalent over the phone. My maternity care will be consultant-led and closely monitored but there won’t be any testing until the baby’s born. In short, at this point it’s a bit of a waiting game.

We were offered an early amniocentesis to test the new baby’s genes but with the risk of miscarriage I don’t want to chance it. The genetic councillor offering us the amnio told me that we should only have it if we would be planning on ending the pregnancy if the new baby had Elfie’s condition, and we wouldn’t. Though she takes special care and management, once you know Elfie’s danger symptoms, her processes when she’s ill and medicines inside out I don’t think it takes much more than someone with an illness such as diabetes.

However, I am getting more and more concerned about the unborn baby. There’s a one in four chance they will be born with this condition; their blood will be sent to Frankfurt on the day they’re born and there are other tests to be done on day 3 that will give a good indication as to whether or not they’re affected. There’s a two in four chance they will be a carrier, something that shouldn’t affect them in their lifetime as the condition is so very rare, and a one in four chance they won’t be affected at all. It makes me stop and think about whether or not we’ve done the right thing; knowing we have a one in four chance in passing this on to our potential children, should we not have had any more kids? And should we draw the line at two, because of the risks?

It’s difficult to rationalise that thought when we have Elfie, who aside from this little blip is the brightest most beautiful baby. She’s stayed overnight in hospital perhaps two or three times in the last year with vomiting bugs that means she can’t digest her medication and has had more doctors appointment than your average toddler, but has been completely well otherwise. She’s just had her first cold and has recovered quickly and as a normal child would and is growing and developing properly for her age. But then it’s also crazy to think that 40 years ago the doctors would have had no idea what was wrong with her and she probably would have died; the oldest person living with this condition is in their early 40’s, it’s only very recently that medicine has become advanced enough to identify and treat it.

Worrying about whether or now we’ve done the right thing in having another baby could morph into a whole debate over the morals and decision behind procreating – so many people are affected by conditions such as Coeliac disease and Alzheimers that are hereditary, so where do you draw the line? Where do you reach the point that you rely on medicine to such an extent that mutated genes and a slightly modified lifestyle don’t figure in the decision making process?

What's Your Reaction?

I think the right thing is whatever you feel is right in your mind, Alice.
There’s a one in four chance in many things, hundreds of thousands of people around the world have these chances of cancer or diabetes when it runs in the family. A millisecond’s choice could lead you to walk out of your house and be struck down by a UFO. It’s the luck of the draw that is having, living and giving life. We (luckily) live in an age that despite the fact there are two negatives to every positive, medicine is evolving every day. As Elfie gets older I’m sure she’ll be able to regulate her own condition with her eyes closed and know when there’s something wrong. Should this recur in the new baby, the same will apply – fear not. I feel it’s just difficult to call having a baby a decision – in part yes but in part luck. Your luck dictates you are blessed with two and thats a wonderful thing! Don’t ever doubt that much.
You are a real trooper and I hope everything goes well. x

Thank you for this comment – and you are so right. I probably would have been previously worried about stepping out my front door and being struck by a bus but I much prefer the UFO visual. I think a lot of my worries stem from the fact I feel guilty for passing on our crazy genes, which we didn’t know about before, but now we do… if that makes sense?

If, as you say, this is treatable and, once everything has been taken on board, only as difficult as diabetes to care for, then I would see no problem in having more children. It doesn’t affect society at large & the only thing you should be concerned about is how it’ll affect you as a family.
As Elfie grows up she’s going to become more and more in tune with herself and adept at caring for herself, so if the new baby does have any problems, he or she will have more than enough family who’ve got their back.

Yep – i think your right – but I think guilt is still an issue and always will be. We didn’t know about the condition pre-E but now we do I worry any other potential kids will feel it’s our fault if they’re ill, and if their lives are affected. But writing this down, I do feel I’m over thinking things!

It is understandable that you worry but it seems to me that there is not too much to worry about; care about, sure but not worry. You and your family are being monitored so should be pretty safe on the whole. It’s not as if you are having the new baby as a ‘back-up’ for Elfie is it?

I see from your Twitter feed that you are 15 minutes down the road from me, that feels quite odd somehow.

Whatever the genes they inherit, you’ll raise a child with unparalleled love and care and bring a helpful, kind and creative person into the world. That’s an unbeatable start for the baby and a good thing for the rest of us.

This is such a wonderful comment – thank you Hattie! I’m in no way religious or spiritual (apart from believing in ghosts…) but I do believe Elfie was born into our family for a reason… we understand, love and care for her because of who she is and what she has and not in spite of. I feel lucky that we are able to look after her so well and maybe not everyone would.

Elfie has loving parents and a wider family who are educated as to her condition, who love her no matter what, and who would do anything to protect her and keep her safe. Her condition is manageable, and as you say, as she grows older, with your help and support she will be able to manage it herself. She can lead a happy, productive and wonderful life with a health issue that will need to be regulated but should not stop her doing anything she wants or needs to do.

You are working hard to do everything you can to give her and her siblings the best possible start in life no matter what. Elfie is lucky to have you, as are the child you are now carrying and any more you may decide to have.

I agree with what Ruby C says. It’s all a risk, all of it, for all of us who choose to have children. All we can do is our best to love them and bring them up to be brilliant people. You’re doing that, so don’t worry.x

I actually read this last night, but felt like I needed to mull it over before commenting as I wanted to make sure that I didn’t rush off some words without being able to really put some thought into it.

Firstly, let me say that you have a very beautiful little girl there. Every time you post a photo I want to cuddle her.

When it comes to having more children, there is no right answer, but don’t forget that means there is also no wrong answer. It is perfectly natural that you would worry – you and your family has gone through so much this past year – but life is too short for regrets. I think in circumstances such as this, you need to go with your instincts and keep your trust in them. Life is far too short for regrets. The only thing we can do in life is what we think is right at that moment in time.

I know that you have mentioned the oldest person living with this condition is in her forties, and that must weigh on you too – but medical advancements can happen quickly. If they couldn’t even diagnose the condition 40 years ago then look how far they have come since then!

I also wanted to add that I lost my mum when she was in her fifties and she had a rich, incredible life. She had a gene which made it a certainty she would get skin cancer (and she did – twice), but we made a promise in our family to get revenge on cancer by living well. I think that’s something that we could ALL do – no matter what our health is like.

You know what…. you just go with it. And you hope for the best. But you’ll deal with whatever is thrown at you but this time with more power and knowledge that you could ever have or indeed ever have wanted. I have a myriad of cliches I could throw at you – Everything Happens For a Reason, Every Cloud Has a Silver Lining…. and I’ve come to believe that these are actual truths. I could talk for hours about the good things that have come from Baby 1, the biggest of which would be Baby 2. That just messes with my whole thought process and its hard (for me) to feel sad about 1 which gave me 2. But on the flip I would give anything to not have had to go through what I did. Does this even make sense :)

My 2nd pregnancy was not fun, the meeting where I was told that this rare condition was so rare there were only 2 papers on it, that they knew nothing about it, didn’t know how to watch for it and didn’t know what to do if they found anything and couldn’t do anything to stop it absolutely terrified me but with it came a feeling of “well it is what it is then” Almost… well its out of my hands. They offered me the chance to terminate as the best odds they could give me were 50/50 but that was just never an option, even if I had to go through all that again. All I could do was take everything they threw at me and just wait. And hope. And pray. As you know everything turned out well but M will have to be tested at 7 yrs to see if he has my inherited condition or not. As a boy it won’t be quite so complicated if he does have it but as its a relatively new condition there might be new things they discover about it in time but it shouldn’t restrict his life too much. My issue comes with any potential number 3 – I’ve had one with, and one without… whats the odds on numero 3? And I’d much much prefer your genetic outcome than my genetic outcome!

Nothing is certain in life and you can only do what you feel is right at the time, for me that was pushing the button marked “fuck it” and letting what would be, be. Safe in the knowledge that I had family and friends that would support me regardless of any outcome. And I recommend burying your head in the sand for a few months too ;-)

Thank you so much for your comment Sara… I had no idea that everything you’ve been through has been down to genetics. I think you are amazing.

Once you start talking about these sort of things it’s astounding how many people are affected by genes/conditions that are inherited. I think just saying fuck it and letting whatever will be happen is such great advice… over-thinking does not help anyone. x

Without wanting to trip over into sentiment, you know about the condition, there’s a chance the baby won’t have it and even if they do you know how to keep it under control AND this is a baby that is going to be born into a wonderful, loving family and not every child, even the totally healthy ones, get that

I do not know what we would do, but even when we thought that Maxi had CF we still had another child. We still brought a child in to the world that might have had a life limiting illness. Was this for selfish reasons? I still do not know. I do know that whatever had happened we could not have got rid of our unborn baby so chose not to have genetic testing.

On the other hand, I still do not know and nor will know until the boys are 18 if I have passed on to them the spelling mistake that I carry (BRCA2)

Thank you for your input Jen – it’s very interesting to discover just how many families deal with Genetic issues when you start talking about it, when you deal with this sort of thing you never tend to look outside your own bubble.

I don’t think it’s selfish to have another child at all, although I can understand why you’d ask yourself that question though! I know Elfie’s on medication, and I’m sure if you could change things you would, but honestly, she looks SO happy and cheeky all the time, I don’t think it’s affecting her day-to-day life. You just have to think, if your second child does have the same illness, you’ll already have some idea of what to do and what life might be like.

Perhaps I’d be saying differently if Elfie had been diagnosed with something life-threatening that left her unhappy, able to talk or walk, that kind of thing – but she’s leading a normal life, so I don’t think you should feel any guilt!

If we all worried about what our illness our babies might or might not have, then I think the human race would have stopped hundreds of years ago! Having had Elfie I know it means you have some prior idea / knowledge of what may lay ahead for your second child, but what about all the things that god forbid, could have been wrong with your first? You didn’t decide to not have a family because of all the many, many illnesses your child could have had – you just went ahead, took hat chance and brought them into a loving family! And I think you need to stay positive and do the same this time too.

Thanks for your input – and I think you are quite right! I think my issues lie in the guilt I feel knowing about the condition now, and is it selfish of me to prioritise my want for more children over the possible effects it may have on their lives? Like I said, huuugely philosophical questions, that should probably only be tackled over a couple of glasses of wine, and no correct answer x

I’d do exactly what you have done. Looking at Elfie, you can tell she’s such a happy, gorgeous little girl and the quality of life she has more than outweighs the negative aspects of medication and occasional hospitalisation in her life. And with the advances in medicine, who knows how they might be able to treat this by the time your children are adults.

I’m making assumptions here, but I’d imagine the worst bit for you and Elfie was when she was unwell in her first few weeks of life but you didn’t know why, up until diagnosis. That’s not going to happen again. Your baby should thrive from the very beginning, regardless of whether or not s/he is affected by the condition, because the doctors are going to be on the ball.

Darling girl. I want to hug you right now. What a huge question to answer and how heart wrenching it must be to not know what will happen with your second sweet baby. Yet none of us have the future written out on a sheet of paper. None of us knows what is in store!

My advice to you is to what what YOU think is right. Life will take its course and it’s up to you to make the best of it. If you feel the passion for more children, I say go for it. If you feel apprehension, then wait until you have peace in your heart to decide.

We are all in support of you. Your children are growing up in a home full of love and support – which is more than most have. How very lucky they will be to be part of your family.

Goodness gracious Alice I think the photos alone with those stunning eyes looking at you is confirmation in itself that you are doing the right thing having another baby Harold! Such a wealth of information you guys must have had to/have to consistently engrave in your minds. Brave parents who clearly produce beautiful babas. Lovin your style as always ps sorry if typos, on blackberry

Sorry it took me so long to get here. This post bought back so many difficult memories for me. There is a rare illness in my family too. I think you’re doing the right thing and you’re going into it with your eyes wide open. If you ever fancy a coffee… x

Oh Alice, I have absolutely no idea what I would do, but everything you do makes a lot of sense and just seems very right. Lots of love, D
PS: Let me know when you are in London next, would love to catch up with you!

Dear Alice, it’s a very interesting and complicated question and one that any couple who has had a diagnosis of a genetic condition will ask themselves. My husband and I lost a baby about half way through the pregnancy to what was later confirmed as a rare genetic condition. Initially I was confident we should be fully tested as I didn’t think it was fair to bring another child into the world to suffer (i must add this condition was physically and mentally a lot more severe than Elfie’s). This feeling lasted about a month before instinct took over and all I wanted was to be pregnant again and hold a baby. I’m sure there is lots of grief and other things involved in this but no matter how intelligent, well educated and practical you are I really do believe there is no rationalising or arguing with what is really a basic animal instinct, procreation, the other is protection, i think that brings out similar feelings… Love and there is nothing stronger.

We like you decided against amnio in a subsequest pregnancy as I just wouldn’t have it in me to terminate although I wouldn’t judge anyone who would. It took a long time to come to terms with it all but we eventually decided to try again and I’m about a week off giving birth to what all the doctors are confident is a completely healthy child. The pregnancy has been enormously stressful, waiting for any physical signed of a repeat diagnosis but feeling the little bruiser kicking around in there makes it all worth it.

I suppose what I’m trying to say is, there is no right answer, different things work for different people and unless you’ve been through it yourself you can’t even begin to understand the love, fear and guilt involved in every thought and decision that is made on a daily basis.. I suppose this is what happens when your children are involved. For anyone who is judgmental it’s probably one of the few times you hope they never do understand as you wouldn’t wish such decisions on anyone.

anyway Elfie is beautiful and you should be very proud.
PS – i know this is an old thread but i found it very interesting and as I’m sure you can tell is something I’ve thought a bit about. Thanks for sharing your family story. x

Hi Alice
It’s been lovely to read your post and hear about someone who is in a similar position.

My husband and I are hoping to start a family in the next year, but we both multiple health conditions including a rare one which I have called Ehlers Danlos Syndrome. There’s a 50:50 chance that our children could have it, and that really worries me.

Obviously I wonder whether its selfish to have children, to risk giving them this condition and put them through the pain I have been through or even worse. But at the same time I have to remember that there’s a 50% chance they won’t have it and even if they do have it, it might not affect them as badly as me.

I read your post and it gives me hope that we can do it too. Thank you. x